1716-P: MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome
Bibliographic record
Abstract
Background: Maturity onset diabetes of the young type 5 (MODY5) is due to a mutation in the hepatocyte nuclear factor 1b (HNF1b) gene on chromosome 17q12. HNF1b mutations have been found in clear cell ovarian carcinomas (CCOC) while non-CCOC express this mutation rarely. 17q12 recurrent deletion syndrome presents with urogenital anomalies, MODY5, neurodevelopmental and psychiatric disorders. We report a patient with 17q12 recurrent deletion syndrome with MODY5, uterine abnormalities and low grade serous ovarian cancer. Clinical Case: The female proband was diagnosed with diabetes at age 12. GAD65, islet cell and insulin auto-antibodies were negative, C-peptide was 2.7 ng/mL. Childhood history included strabismus, depression and chronic transaminitis with unremarkable liver biopsy. Mother’s medical history was notable for single kidney, partially-septated uterus, and diabetes. At age 25, the patient presented with abdominal pain. CT showed pancreatic atrophy, ascites, omental and peritoneal nodularity and calcifications. Tumor markers were normal except an elevated CA-125 of 240 U/mL. Short stature was noted, height 147 cm, BMI 27 kg/m2. Laparoscopy revealed bicornuate uterus, 2 cervices and vaginal septum. She underwent TAH-BSO, lymph node dissection and omentectomy for a stage IIIC low grade serous ovarian carcinoma. Chromosomal microarray analysis of the tumor revealed a pathogenic ∼1.8 Mb loss of 17q12, denoted arr[hg19] 17q12(34477479_36283807)x1. Conclusion: While 17q12 has been described as a susceptibility locus in some ovarian cancers, ovarian cancer predisposition is not a reported feature of MODY5 or 17q12 recurrent deletion syndrome. The disease association reported here suggests that women with MODY5 should have periodic evaluation for ovarian cancer in addition to screening for gut and urogenital tract abnormalities. Patients with diabetes plus urogenital tract abnormalities or 17q12 deletion in an ovarian tumor should have genetic evaluation for MODY5. Disclosure L. Hollar: None. M. Salam: None. P.H. Thaker: Advisory Panel; Self; Clovis. Consultant; Self; AbbVie Inc., Celsion, Tesaro, UpToDate. Research Support; Self; Celsion, Merck & Co., Inc. Speaker’s Bureau; Self; Merck & Co., Inc., Tesaro. J.B. McGill: Advisory Panel; Self; Boehringer Ingelheim Pharmaceuticals, Inc., Gilead Sciences, Inc., Novo Nordisk Inc., Sanofi US. Research Support; Self; Dexcom, Inc., Medtronic, Novartis AG, Sanofi US. Speaker's Bureau; Self; Aegerion Pharmaceuticals, Dexcom, Inc., Janssen Pharmaceuticals, Inc., MannKind Corporation.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".